Variant position: 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 184 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TQVTMTCCQSSLCNVPPWQS SRVQD------------------------------------------------PTGKGAGGPRGSSETV
Mouse TQMTQTCCQSTLCNIPPWQN PQVQNPLGGRADSPLESGTRH
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
21 – 151 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
63 – 148 UPAR/Ly6
151 – 151 GPI-anchor amidated glycine
126 – 126 V -> A. Promotes formation of dimers and oligomers reducing number of monomers.
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran R.P.; Visser M.E.; Heemelaar S.; Wang J.; Peter J.; Defesche J.C.; Kuivenhoven J.A.; Hosseini M.; Peterfy M.; Kastelein J.J.; Johansen C.T.; Hegele R.A.; Stroes E.S.; Dallinga-Thie G.M.;
J. Intern. Med. 272:185-196(2012)
Cited for: VARIANTS HLPP1D TYR-65; ARG-108; PRO-115 AND PHE-144;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.